Chiari malformation type II

Summary

Chiari malformation type II (MONDO:0008816) is a disease and 5 clinical trials. A subtype of Chiari malformation — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	Chiari malformation type II
Mondo ID	MONDO:0008816
OMIM	207950
Orphanet	1136
SNOMED CT	373587001
UMLS	C0555206
MedGen	108222
GARD	0009232
MedDRA	10056945
Is cancer (heuristic)	no

Also known as: Arnold Chiari malformation type II · Arnold-Chiari malformation type 2 · Arnold-Chiari malformation type II · Chiari malformation type 2 · Chiari malformation type II · Chiari type II malformation

Disease family

This is a subtype of Chiari malformation. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › Chiari malformation › Chiari malformation type II

Related subtypes (3): Chiari malformation type I, Chiari malformation type 3, Chiari malformation type 4

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 5.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	5

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03090633	Not specified	ACTIVE_NOT_RECRUITING	Fetoscopic Repair of Isolated Fetal Spina Bifida
NCT06560788	Not specified	NOT_YET_RECRUITING	The Role of CSF in Chiari II Brain Malformation
NCT03315637	Not specified	UNKNOWN	Fetal Endoscopic Surgery for Spina Bifida
NCT03544970	Not specified	COMPLETED	An Audit of the Posterior Fossa Characterization in Open Spina Bifida Based on Tertiary Center Experience
NCT04356703	Not specified	COMPLETED	Fetoscopic Open Spina Bifida Repair Using the SAFER Technique